Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10323252	Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifu	1.63 KB	2015-11-15	17	7	-
PubMed	10382910	Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. X-linked Emery-Dreifuss mu	782 Bytes	2015-11-15	16	0	-
PubMed	10406661	Small deletions in the type II collagen triple helix produce kniest dysplasia. Kniest dysplasia is a	1.5 KB	2015-11-15	17	4	-
PubMed	10426139	A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. We report a novel muta	723 Bytes	2015-11-21	15	1	-
PubMed	10441571	Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. The PAX6 gene	1.49 KB	2015-11-21	17	1	-
PubMed	10465113	Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layer	1.75 KB	2015-11-21	18	5	-
PubMed	10466420	Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of dia	756 Bytes	2015-11-15	18	1	-
PubMed	10472529	Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mu	1.08 KB	2015-11-15	18	0	-
PubMed	10480214	Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. A boy	861 Bytes	2015-11-15	17	2	-
PubMed	10484772	Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the N	1.1 KB	2015-11-15	17	6	-